Thrombocytopenia with absent radii (TAR) is a rare autosomal recessive disease characterized by hypomega-karyocytic thrombocytopenia and bilateral radial aplasia. We performed mutational screening of coding and promoter regions of the c-mpl gene, encoding thrombopoietin (TPO) receptor, by sequence analysis in four unrelated patients affected by TAR syndrome. Our results indicate that c-mpl gene mutations are not a common cause of thrombocytopenia in TAR syndrome.
Strippoli, P., Savoia, A., Iolascon, A., Tonelli, R., Savino, M., Giordano, P., D'Avanzo, M., Massolo, F., Locatelli, F., Borgna, C., De Mattia, D., Zelante, L., Paolucci, G., Bagnara, G. P., Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopenia and absent radii (TAR), <<BRITISH JOURNAL OF HAEMATOLOGY>>, 1998; 103 (2): 311-314. [doi:10.1046/j.1365-2141.1998.00991.x] [https://hdl.handle.net/10807/264314]
Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopenia and absent radii (TAR)
Savino, Mariachiara;Locatelli, Franco;Paolucci, Giorgio;
1998
Abstract
Thrombocytopenia with absent radii (TAR) is a rare autosomal recessive disease characterized by hypomega-karyocytic thrombocytopenia and bilateral radial aplasia. We performed mutational screening of coding and promoter regions of the c-mpl gene, encoding thrombopoietin (TPO) receptor, by sequence analysis in four unrelated patients affected by TAR syndrome. Our results indicate that c-mpl gene mutations are not a common cause of thrombocytopenia in TAR syndrome.
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